Varaico: Literature-Extracted Genetic Variants

PARD3

10p11.22-p11.21 (UCSC)OMIM PanelApp GTEx

296 papers

RefSeq Summary

This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell ...

Pfam Domains

Par3_HAL_N_termaa 1–83UCSCN-terminal of Par3 and HAL proteins

PDZaa 461–545UCSCPDZ domain

PDZaa 590–679UCSCPDZ domain

Gene Aliases

HGNC Name

par-3 family cell polarity regulator

HGNC Alias Symbols

PAR3; PARD3A; Bazooka; PPP1R118

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184785.2

p.V23V

c.69T>C

Surrounding Variants

1 paper

NM_001184785.2

p.V23del1

c.67_69delAAC

1 paper

NM_001184785.2

p.S25N

c.74G>A

1 paper

NM_001184785.2

p.S25delFs

c.74delC

1 paper

NM_001184785.2

p.L26F

c.76C>T

1 paper

NM_001184785.2

p.T10_G19del10

c.28_56del30

1 paper

NM_001184785.2

p.I27del1

c.79_80delGAT

1 paper

NM_001184785.2

p.G17G

c.51G>A

2 papers

NM_001184785.2

p.V13A

c.38T>C

1 paper

NM_001184785.2

p.V13D

c.38T>A

1 paper

NM_001184785.2

p.V12L

c.34G>T

1 paper

NM_001184785.2

p.R35insFs

c.104_105ins5

1 paper

NM_001184785.2

p.Y34_R35delFs

c.100_104del5